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IMHOTEP—a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants

The in silico prediction of the functional consequences of mutations is an important goal of human pathogenetics. However, bioinformatic tools that classify mutations according to their functionality employ different algorithms so that predictions may vary markedly between tools. We therefore integr...

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Detalles Bibliográficos
Autores principales: Knecht, Carolin, Mort, Matthew, Junge, Olaf, Cooper, David N., Krawczak, Michael, Caliebe, Amke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388428/
https://www.ncbi.nlm.nih.gov/pubmed/28180317
http://dx.doi.org/10.1093/nar/gkw886